Current status of pyruvate dehydrogenase complex deficiency
10.3760/cma.j.issn.1673-4408.2014.06.011
- VernacularTitle:丙酮酸脱氢酶复合物缺乏症的研究现状
- Author:
Moling WU
- Publication Type:Journal Article
- Keywords:
Pyruvate dehydrogenase complex deficiency;
Leigh disease
- From:
International Journal of Pediatrics
2014;41(6):610-613
- CountryChina
- Language:Chinese
-
Abstract:
Pyruvate dehydrogenase complex (PDHc)deficiency is a genetic disorder of mitochondrial energy metabolism.Most cases result from mutations in gene encoded PDHc.The clinical presentation of patients with PDHc deficiency is extremely variable.Diagnosis of PDHc deficiency remains challenging,which depends on definitive enzymatic assays and DNA analysis.We review the relevant literature of recent domestic and international research results,in order to enhance our awareness of this disease and reduce misdiagnosis and missed diagnosis.It is helpful to improve prognosis and quality of life of patients by earlier and essential treatment.
